Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.G972W

TET1

435 papers

RefSeq Summary

DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) famil...

Pfam Domains

zf-CXXCaa 584–624UCSCCXXC zinc finger domain
Tet_JBPaa 1580–2052UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 1

HGNC Previous Symbol

CXXC6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030625.3
p.G972W
c.2914G>T
Surrounding Variants
1 paper
NM_030625.3
p.T975I
c.2924C>T
1 paper
NM_030625.3
p.V968L
c.2902G>C
1 paper
NM_030625.3
p.V968L
c.2902G>T
1 paper
NM_030625.3
p.T967T
c.2901G>A
2 papers
NM_030625.3
p.T967M
c.2900C>T
1 paper
NM_030625.3
p.H981R
c.2942A>G
3 papers
NM_030625.3
p.A985S
c.2953G>T
1 paper
NM_030625.3
p.N987K
c.2961C>A
1 paper
NM_030625.3
p.N987K
c.2961C>G
1 paper
NM_030625.3
p.T991S
c.2971A>T
1 paper
NM_030625.3
p.K952E
c.2854A>G
1 paper
NM_030625.3
p.H994H
c.2982T>C
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